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XXYY syndrome

MedGen UID:
422434
Concept ID:
C2936741
Disease or Syndrome
Synonyms: 48,XXYY syndrome; Klinefelter syndrome, variants
SNOMED CT: XXYY syndrome (403760006)
 

Definition

A rare sex chromosome abnormality in which a male child has an extra X and Y chromosome. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVXXYY syndrome
Follow this link to review classifications for XXYY syndrome in Orphanet.

Recent clinical studies

Etiology

Hanley AP, Blumenthal JD, Lee NR, Baker EH, Clasen LS, Giedd JN
Neuroimage Clin 2015;8:133-9. Epub 2015 Apr 15 doi: 10.1016/j.nicl.2015.04.009. PMID: 26106537Free PMC Article
Tartaglia N, Davis S, Hench A, Nimishakavi S, Beauregard R, Reynolds A, Fenton L, Albrecht L, Ross J, Visootsak J, Hansen R, Hagerman R
Am J Med Genet A 2008 Jun 15;146A(12):1509-22. doi: 10.1002/ajmg.a.32366. PMID: 18481271Free PMC Article
Fryns JP, Kleczkowska A, Kubień E, Van den Berghe H
Genet Couns 1995;6(3):197-206. PMID: 8588846
Borghgraef M, Fryns JP, Van den Berghe H
Genet Couns 1991;2(2):103-8. PMID: 1781953

Diagnosis

Karampelas M, Gardner J, Holder G, Hardcastle A, Webster A
Doc Ophthalmol 2013 Dec;127(3):245-7. Epub 2013 Sep 19 doi: 10.1007/s10633-013-9406-x. PMID: 24048723
Lote H, Fuller GN, Bain PG
Pract Neurol 2013 Aug;13(4):249-53. Epub 2013 Mar 13 doi: 10.1136/practneurol-2012-000438. PMID: 23487807
Kemeny S, Pebrel-Richard C, Gouas L, Veronese L, Lemery D, Tchirkov A, Goumy C, Vago P
Morphologie 2013 Jun;97(317):65-7. Epub 2013 Mar 7 doi: 10.1016/j.morpho.2013.01.001. PMID: 23473874
Zhang QS, Li DZ
J Matern Fetal Neonatal Med 2009 Dec;22(12):1214-6. doi: 10.3109/14767050903026465. PMID: 19916722
Tartaglia N, Davis S, Hench A, Nimishakavi S, Beauregard R, Reynolds A, Fenton L, Albrecht L, Ross J, Visootsak J, Hansen R, Hagerman R
Am J Med Genet A 2008 Jun 15;146A(12):1509-22. doi: 10.1002/ajmg.a.32366. PMID: 18481271Free PMC Article

Therapy

Izumi S, Tsubahara A
Tokai J Exp Clin Med 2000 Jun;25(2):39-44. PMID: 11127505
Lee JW
Aust N Z J Psychiatry 1996 Aug;30(4):553-6. doi: 10.3109/00048679609065032. PMID: 8887709
Yamane Y, Okamoto S, Fukui H, Matsumura Y, Yoshikawa M, Tsujita S, Tsujii T
Intern Med 1993 Feb;32(2):160-5. doi: 10.2169/internalmedicine.32.160. PMID: 8389624

Prognosis

Borghgraef M, Fryns JP, Van den Berghe H
Genet Couns 1991;2(2):103-8. PMID: 1781953
Grammatico P, Bottoni U, De Sanctis S, Sulli N, Tonanzi T, Onorio AC, Del Porto G
Clin Genet 1990 Jul;38(1):74-8. PMID: 2387088

Clinical prediction guides

Kemeny S, Pebrel-Richard C, Gouas L, Veronese L, Lemery D, Tchirkov A, Goumy C, Vago P
Morphologie 2013 Jun;97(317):65-7. Epub 2013 Mar 7 doi: 10.1016/j.morpho.2013.01.001. PMID: 23473874
Tartaglia N, Davis S, Hench A, Nimishakavi S, Beauregard R, Reynolds A, Fenton L, Albrecht L, Ross J, Visootsak J, Hansen R, Hagerman R
Am J Med Genet A 2008 Jun 15;146A(12):1509-22. doi: 10.1002/ajmg.a.32366. PMID: 18481271Free PMC Article
Nakajima H, Tajima K, Nakajima T, Iida S, Sumi S, Kono N, Moriwaki K, Nonaka K, Tarui S
Postgrad Med J 1986 Mar;62(725):219-22. doi: 10.1136/pgmj.62.725.219. PMID: 3714610Free PMC Article

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